Researchers have discovered that preemptive pharmacogenetic testing in patients with sickle cell disease (SCD) can aid drug selection optimization and reduce adverse drug reactions.

The findings were published in a study in Pharmacogenomics. 

In recent years, personalized medicine using pharmacogenetics has emerged as a viable tool to improve therapeutic outcomes. In the field of SCD research, data on pharmacogenetic associations for SCD therapeutics have begun to emerge. 

Patients with SCD are typically on a number of medications, including disease-modifying therapy, mental health drugs, and pain medication. Many of the drugs that they are likely to be exposed to have Clinical Pharmacogenetics Implementation Consortium (CPIC) evidence-based guidelines; these guidelines mean that pharmacogenetic data are available to guide dosing. 

Read more about SCD etiology 

“The aim of this study was to ascertain the number of drugs with available CPIC guidelines prescribed to SCD patients,” the authors wrote. 

The research team accessed clinical data from hospitals affiliated with Indiana University. They specifically studied the electronic medical records of patients with SCD and identified any drugs with CPIC evidence that can be used to guide therapy. Their analysis included actionable gene-drug pairs and therapeutic alternative therapies listed in the CPIC guidelines. 

The research team discovered that, on average, patients with SCD received 3 unique CPIC drugs per person. They also found that the most utilized drug classes were opioids and nonsteroidal anti-inflammatory drugs, and that exposure to CPIC drugs directly correlated with a patient’s age. 

Overall, they discovered that patients with SCD have a high utilization of medications with CPIC guidelines, meaning that patients with SCD can benefit from preemptive pharmacogenetic testing to optimize drug selection. 

Read more about SCD therapies

“Early pre-emptive pharmacogenetic testing could improve efficacy and decrease adverse drug reactions in SCD patients by offering another tool to ensure that the most appropriate drugs and/or doses are chosen,” the authors concluded. 


Gallaway KA, Sakon C, Ongeri J, et al. Opportunity for pharmacogenetics testing in patients with sickle cell anemiaPharmacogenomics. 2022;23(17):925-931. doi:10.2217/pgs-2022-0115